oalib

Publish in OALib Journal

ISSN: 2333-9721

APC: Only $99

Submit

Any time

2016 ( 1 )

2015 ( 10 )

2014 ( 22 )

2013 ( 17 )

Custom range...

Search Results: 1 - 10 of 351 matches for " Ghyslaine Martel "
All listed articles are free for downloading (OA Articles)
Page 1 /351
Display every page Item
Low Prevalence of TP53 Mutations and MDM2 Amplifications in Pediatric Rhabdomyosarcoma
Simona Ognjanovic,Ghyslaine Martel,Carlos Manivel,Magali Olivier,Erica Langer,Pierre Hainaut
Sarcoma , 2012, DOI: 10.1155/2012/492086
Abstract: The tumor suppressor gene TP53 is the most commonly mutated gene in human cancer. The reported prevalence of mutations in rhabdomyosarcoma (RMS) varies widely, with recent larger studies suggesting that TP53 mutations in pediatric RMS may be extremely rare. Overexpression of MDM2 also attenuates p53 function. We have performed TP53 mutation/MDM2 amplification analyses in the largest series analyzed thus far, including DNA isolated from 37 alveolar and 38 embryonal RMS tumor samples obtained from the Cooperative Human Tissue Network (CHTN). Available samples were frozen tumor tissues (=48) and histopathology slides. TP53 mutations in exons 4–9 were analyzed by direct sequencing in all samples, and MDM2 amplification analysis was performed by differential PCR on a subset of 22 samples. We found only one sample (1/75, 1.3%) carrying a TP53 mutation at codon 259 (p.D259Y) and no MDM2 amplification. Two SNPs in the TP53 pathway, associated with accelerated tumor onset in germline TP53 mutation carriers, (TP53 SNP72 (rs no. 1042522) and MDM2 SNP309 (rs no. 2279744)), were not found to confer earlier tumor onset. In conclusion, we confirm the extremely low prevalence of TP53 mutations/MDM2 amplifications in pediatric RMS (1.33% and 0%, respectively). The possible inactivation of p53 function by other mechanisms thus remains to be elucidated.
Low Prevalence of TP53 Mutations and MDM2 Amplifications in Pediatric Rhabdomyosarcoma
Simona Ognjanovic,Ghyslaine Martel,Carlos Manivel,Magali Olivier,Erica Langer,Pierre Hainaut
Sarcoma , 2012, DOI: 10.1155/2012/492086
Abstract: The tumor suppressor gene TP53 is the most commonly mutated gene in human cancer. The reported prevalence of mutations in rhabdomyosarcoma (RMS) varies widely, with recent larger studies suggesting that TP53 mutations in pediatric RMS may be extremely rare. Overexpression of MDM2 also attenuates p53 function. We have performed TP53 mutation/MDM2 amplification analyses in the largest series analyzed thus far, including DNA isolated from 37 alveolar and 38 embryonal RMS tumor samples obtained from the Cooperative Human Tissue Network (CHTN). Available samples were frozen tumor tissues ( ) and histopathology slides. TP53 mutations in exons 4–9 were analyzed by direct sequencing in all samples, and MDM2 amplification analysis was performed by differential PCR on a subset of 22 samples. We found only one sample (1/75, 1.3%) carrying a TP53 mutation at codon 259 (p.D259Y) and no MDM2 amplification. Two SNPs in the TP53 pathway, associated with accelerated tumor onset in germline TP53 mutation carriers, (TP53 SNP72 (rs no. 1042522) and MDM2 SNP309 (rs no. 2279744)), were not found to confer earlier tumor onset. In conclusion, we confirm the extremely low prevalence of TP53 mutations/MDM2 amplifications in pediatric RMS (1.33% and 0%, respectively). The possible inactivation of p53 function by other mechanisms thus remains to be elucidated. 1. Introduction Rhabdomyosarcoma (RMS) is the most common type of soft tissue sarcoma diagnosed in children under the age of 15 years contributing to approximately 4% of all childhood malignancies [1]. Two major subtypes, embryonal (ERMS) and alveolar rhabdomyosarcoma (ARMS), together comprise 80% of all rhabdomyosarcoma [2]. The predominant subtype is ERMS which is characterized by earlier age of onset and better survival compared to ARMS (70% versus 50%, resp.) [2, 3]. While ERMS is characterized by frequent loss of imprinting on chromosome 11p15, a region containing a number of imprinted genes, including IGF2, 80% of ARMS present with translocations, most frequently involving PAX 3 or 7 and FOXO gene rearrangements [4, 5]. Young age of onset, a number of identified predisposing syndromes, and paucity of environmental and lifestyle risk factors all contribute to the widely accepted view that genetic aberrations may play an important role in RMS development [3, 5]. However, the etiology of RMS remains largely unknown primarily due to its rarity and diagnostic diversity [2]. TP53 is the most commonly mutated gene in human cancer; however, the prevalence of TP53 mutations varies greatly by cancer type [6]. This tumor
Molecular Analyses of Early-Onset Gastric Cancer in Brazilian Patients: TP53 Mutations, Cadherin-Catenin and Mucins Proteins Expression  [PDF]
Edaise Maria da Silva, José Humberto Tavares Guerreiro Fregnani, Ghyslaine Martel, Wilson Luiz Costa Jr., Felipe José Fernández Coimbra, Maria Isabel Waddington Achatz, Pierre Hainaut, Fernando Augusto Soares
Journal of Cancer Therapy (JCT) , 2013, DOI: 10.4236/jct.2013.41A005
Abstract:

Early gastric carcinomas may develop with a molecular profile differing from sporadic carcinomas occurring at a later age. In this study, we analyzed a retrospective series of 88 patients with gastric adenocarcinoma diagnosed before the age of 45 years for the presence of TP53 mutations, clinicopathological features and immunohistochemistry to evaluate the expression of markers considered to be important in gastric carcinogenesis (E-cadherin, β-catenin, MUC1, MUC2, MUC5AC, MUC6 and p53). The majority of proportion of tumors were diffuse-type (70%) and advanced stage (56%). Familial history of cancer was positive in 21% of the cases. There was a significant association between altered expression of E-cadherin and β-catenin, and between p53 expression and perineural invasion. TP53 mutations were detected in 14.5% of evaluated cases, including a germline mutation (p.R337H) in a 12-year old patient. Overall survival analysis showed significant differences in relation with tumor stage and histopathology. The evaluated biomarkers did not present prognostic value in non-exploratory multivariate analyses. The low frequency of TP53 mutations in this series suggests these alterations are not a major molecular event in gastric cancer occurring at early age, although the identification of a case with germline p.R337H mutation is consistent with the hypothesis that a small proportion of early, apparently sporadic gastric cancer, may be associated with widespread Brazilian founder mutations. Further studies are needed to evaluate the prognostic significance of markers for specific groups of patients according to tumor histology and familial history.

Paroles d’acteurs sociaux : le point de vue de la CGT sur la gouvernance de la conciliation travail-famille en France
Ghyslaine Richard
Interventions économiques , 2010,
Abstract: Ce texte présente le point de vue général de la CGT (Confédération générale du travail, France) sur les questions touchant l’égalité hommes-femmes, ainsi que la conciliation travail-famille, dans le cadre du projet de recherche France-Québec sur la gouvernance de la conciliation travail-famille. This paper presents the point of view of the CGT union (Confédération générale du travail, France) on the issues of equality between men and women as well as work-family reconciliation, in the context of the comparative research project between France and Québec on the governance of work-family reconciliation.work-family reconciliation, working time, parental leave, childcare
TP53 mutation p.R337H in gastric cancer tissues of a 12-year-old male child - evidence for chimerism involving a common mutant founder haplotype: case report
Edaise M da Silva, Maria W Achatz, Ghyslaine Martel-Planche, André L Montagnini, Magali Olivier, Patricia A Prolla, Pierre Hainaut, Fernando A Soares
BMC Cancer , 2011, DOI: 10.1186/1471-2407-11-449
Abstract: The patient, diagnosed with metastatic disease, died seven months after surgery. DNA from intra-surgical specimens revealed a TP53 mutation at codon 337 (p.R337H) in samples with neoplastic cells (dysplasia, tumor and metastasis) but not in non-transformed cells (incomplete intestinal metaplasia and non-involved celiac lymph node). In all mutation-positive tissues, p.R337H occurred on the same background, a founder allele identified by a specific haplotype previously described in Brazilian Li-Fraumeni syndrome patients. The same mutant haplotype, corresponding to a founder mutation present in 0.3% of the general population in Southern Brazil, was found in the genome of the father. Presence of this inherited haplotype in the tumor as well as in the father's germline, suggests a rare case of microchimerism in this patient, who may have harbored a small number of mutant cells originating in another individual, perhaps a dizygotic twin that died early in gestation.This case represents one of the earliest ages at diagnosis of gastric cancer ever reported. It shows that cancer inheritance can occur in the absence of an obvious germline mutation, calling for caution in assessing early cancers in populations with common founder mutations such as p.R337H in Southern Brazil.Gastric cancer is the 4th most common cancer in both genders in Brazil, as observed in population-based cancer registries across the country, with incidence rates varying from 22.4 to 53.6 per 100.000 individuals in the States of Goiania and S?o Paulo, respectively [1]. Despite recent reduction in incidence and mortality observed in the country, occurrence of gastric cancer remains amongst the highest worldwide, in contrast with the sharp decline observed in many countries over recent years [2,3]. The reasons for high incidence are still unclear and are likely to involve multiple etiological factors.In recent studies on cancer occurrence in Li-Fraumeni syndrome subjects who are carriers of germline TP53 mu
Hepatitis B and Hepatitis C Infection Biomarkers and TP53 Mutations in Hepatocellular Carcinomas from Colombia
Maria-Cristina Navas,Iris Suarez,Andrea Carre?o,Diego Uribe,Wilson Alfredo Rios,Fabian Cortes-Mancera,Ghyslaine Martel,Beatriz Vieco,Diana Lozano,Carlos Jimenez,Doriane Gouas,German Osorio,Sergio Hoyos,Juan Carlos Restrepo,Gonzalo Correa,Sergio Jaramillo,Rocio Lopez,Luis Eduardo Bravo,Maria Patricia Arbelaez,Jean-Yves Scoazec,Behnoush Abedi-Ardekani,Regina M. Santella,Isabelle Chemin,Pierre Hainaut
Hepatitis Research and Treatment , 2011, DOI: 10.1155/2011/582945
Abstract: Hepatocellular Carcinoma (HCC) is a leading cause of cancer-related death worldwide. Globally, the most important HCC risk factors are Hepatitis B Virus (HBV) and/or Hepatitis C Virus (HCV), chronic alcoholism, and dietary exposure to aflatoxins. We have described the epidemiological pattern of 202 HCC samples obtained from Colombian patients. Additionally we investigated HBV/HCV infections and TP53 mutations in 49 of these HCC cases. HBV biomarkers were detected in 58.1% of the cases; HBV genotypes F and D were characterized in three of the samples. The HCV biomarker was detected in 37% of the samples while HBV/HCV coinfection was found in 19.2%. Among TP53 mutations, 10.5% occur at the common aflatoxin mutation hotspot, codon 249. No data regarding chronic alcoholism was available from the cases. In conclusion, in this first study of HCC and biomarkers in a Colombian population, the main HCC risk factor was HBV infection. 1. Introduction Primary liver cancer is the third leading cause of cancer death. Moreover, it is the fifth and eighth most frequent cancer among men and women worldwide, respectively. The most common histological type of liver cancer is hepatocellular carcinoma (HCC) accounting for 80 to 90% of the cases [1]. HCC incidence is highly variable among geographic regions depending on the prevalence of risk factors and the incidence of liver cirrhosis; actually, 70 to 90% of HCC cases develop from cirrhotic liver. Major risk factors of HCC include Hepatitis B Virus (HBV) and/or Hepatitis C Virus (HCV) infection and heavy alcohol consumption. In fact, chronic HBV and HCV infections have been recognized as liver carcinogens with an imputable fraction of at least 75% of HCC cases; moreover, it has been estimated that HBV is responsible for 50 to 80%, whereas HCV is associated to 10 to 25% of HCC cases. Other environmental and genetic HCC risk factors include dietary exposure to aflatoxins, diabetes, obesity, nonalcoholic steatohepatitis, and hereditary hemochromatosis [1–3]. The burden of HCC is growing in different continents. Central and South America were in the past known as low-incidence liver cancer regions. However, according to the last published GLOBOCAN analysis, the incidence rates of liver cancer in these countries correspond to low and intermediate incidence. Colombia is a country of relatively low incidence of liver cancer with incidences of primary liver and bile duct cancers of 3.1/100,000 in males and 2.7/100,000 in females. However, there is only one active cancer registry in the country, based in Cali city, an urban area;
Prevalence of the TP53 p.R337H Mutation in Breast Cancer Patients in Brazil
Juliana Giacomazzi, Marcia S. Graudenz, Cynthia A. B. T. Osorio, Patricia Koehler-Santos, Edenir I. Palmero, Marcelo Zagonel-Oliveira, Rodrigo A. D. Michelli, Cristovam Scapulatempo Neto, Gabriela C. Fernandes, Maria Isabel W. S. Achatz, Ghyslaine Martel-Planche, Fernando A. Soares, Maira Caleffi, José Roberto Goldim, Pierre Hainaut, Suzi A. Camey, Patricia Ashton-Prolla
PLOS ONE , 2014, DOI: 10.1371/journal.pone.0099893
Abstract: Germline TP53 mutations predispose individuals to multiple cancers and are associated with Li-Fraumeni/Li-Fraumeni-Like Syndromes (LFS/LFL). The founder mutation TP53 p.R337H is detected in 0.3% of the general population in southern Brazil. This mutation is associated with an increased risk of childhood adrenal cortical carcinoma (ACC) but is also common in Brazilian LFS/LFL families. Breast Cancer (BC) is one of the most common cancers diagnosed in TP53 mutation carriers. We have assessed the prevalence of p.R337H in two groups: (1) 59 BC affected women with a familial history (FH) suggestive of hereditary cancer syndrome but no LFS/LFL features; (2) 815 BC affected women unselected for cancer FH, diagnosed with BC at or before age 45 or at age 55 or older. Among group 1 and group 2 patients, 2/59 (3.4%, CI95%: 0.4%–11.7%) and 70/815 (8.6%, CI95%: 6.8%–10.7%), respectively, were p.R337H carriers in the germline. The prevalence of p.R337H was higher in women diagnosed with BC at or before age 45 (12.1%, CI95%: 9.1%–15.8%) than at age 55 or older (5.1%, CI95%: 3.2%–7.7%), p<0.001). The Brazilian founder p.R337H haplotype was detected in all carriers analysed. These results suggest that inheritance of p.R337H may significantly contribute to the high incidence of BC in Brazil, in addition to its recently demonstrated impact on the risk of childhood ACC.
Family Disruption in Canada: Impact of the Changing Patterns of Family Formation and of Female Employment
Celine Le Bourdais,Ghyslaine Neill,Nathalie Vachon
Canadian Studies in Population , 2000,
Abstract:
Pactos comunitários e prote??o em San Salvador
Martel, Roxana;
Tempo Social , 2010, DOI: 10.1590/S0103-20702010000200002
Abstract: this article explores the frontier experience now pervasive in working-class urban districts of el salvador. considered one of the most violent countries in latin america, the response of the governments has been to combat the gangs. however, rather than falling, rates of violence have been on the increase. the interest here is analyzing the distinct pacts that the communities make in search of protection, part of a scenario in which a multitude of actors determine the legal and illegal dynamics of the neighbourhoods. based on research conducted in two emblematic districts, the article discusses state power in the management of illegalisms and the use of state violence.
Machiavelli's Public Conspiracies
James Martel
MediaTropes , 2011,
Abstract:
Page 1 /351
Display every page Item


Home
Copyright © 2008-2017 Open Access Library. All rights reserved.